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目的探讨HLA-DQB1基因单核苷酸多态性(single nucleotide polymorphisms,SNP)与汉族人群系统性红斑狼疮(systemic lupus erthematosus,SLE)遗传易感性的相关性。方法通过聚合酶链式反应-连接酶检测反应(polymerase chain reaction-ligase detection reaction,PCR-LDR)技术对908例SLE患者和961例健康对照rs3129716(HLA-DQB1)位点进行基因分型,同时结合临床表现分型,分析该位点与疾病及临床表型的相关性。分型结果用PLINK1.07软件进行统计分析。结果 rs3129716(HLA-DQB1)位点等位基因频率和基因型频率在SLE疾病组和对照组的分布差异无统计学意义(P>0.05)。三种遗传模型下的分析显示,两组间差异无统计学意义(P>0.05)。将SLE患者按血清学指标及临床表现分型,未发现相关性。结论rs3129716(HLA-DQB1)与中国汉族人群SLE患者遗传易感性不相关。
Objective To investigate the association between genetic polymorphisms of single nucleotide polymorphisms (HLA-DQB1) and susceptibility to systemic lupus erthematosus (SLE) in Han population. Methods Genotypes of 908 patients with SLE and 961 healthy controls rs3129716 (HLA-DQB1) were genotyped by polymerase chain reaction-ligase detection reaction (PCR-LDR) Combined with clinical manifestations, analysis of the location and disease and clinical phenotype correlation. Classification results using PLINK1.07 software for statistical analysis. Results There was no significant difference in allele frequency and genotype frequency between rs3129716 (HLA-DQB1) loci and controls (P> 0.05). Analysis of the three genetic models showed no significant difference between the two groups (P> 0.05). SLE patients according to serological indicators and clinical manifestations, no correlation found. Conclusion The rs3129716 (HLA-DQB1) is not associated with the susceptibility to SLE in Chinese Han population.